M E D I C U S - Shoqata e Mjekëve Shqiptarë të Maqedonisë-Hipokrati

Figure 2. Several of the common anomalies in trisomy 18. A. Right foot, plantar view.
Unusual position of the 5 th toe beneath the 4 th . B. Clenched hands with a simian crease.
CASE 2
The patient was delivered at term (40 wg) by a cesarean section due to a breech
position and fetal distress, after a normal pregnancy. Prenatal diagnosis was again
omitted due to the young parental age. The child was born severely growth retarded; the
birth weight was 2450 g and the birth length was 44 cm. A moderate perinatal asphyxia
was present at birth (Apgar score 4/8). She was transferred to the Intensive Care Unit at
the age of 2 days for further diagnostic workup and treatment under a clinical picture of
respiratory failure, suspected sepsis and edema of the extremities. Initial diagnostic
workup included chest radiogram (Figure 3) and echocardiography; the child was
diagnosed to have left sided pulmonary athelectasis and a very complex congenital
cardiopathy-AV (atrioventricular) canal, single ventricle, single AV valve, transposition
of the great vessels, pulmonary hypertension. The dysmorphic profile included the
following features: narrow orbital fissures, triangular face, wide and prominent forehead,
low-set ears, short nasal ridge, small mouth (microstomia), retrognathia, small malformed
ears, hypoplastic mamillae, camptodactily. Ultrasonography of the central nervous
system showed 2 nd degree intracranial hemorrhage with periventricular leucomalation, a
chorioid plexus cyst as well as dilated posterior cranial fossa at the level of cistern magna
(Figure 4). Therapeutic measures included oxygen, double antibiotic treatment,
maintenance of fluid and electrolyte balance, and a total parenteral nutrition. However,
the general condition worsened promptly, the prolonged periods of apnea and
bradiacardia led to a terminal cardiorespiratory insufficiency and a lethal outcome in 4 th
day of life. Cytogenetic analysis confirmed trisomy 18 post mortem.
Figure 3. Chest radiogram of a female infant with trysomy 18, aged 2 days. Left sided
pulmonary athelectasis is noticeable with a preserved pulmonary transparency on the
right.